Search Results - "RAFAELS, Nicholas"

Tight junction defects in patients with atopic dermatitis by De Benedetto, Anna, MD, Rafaels, Nicholas M., MS, McGirt, Laura Y., MD, Ivanov, Andrei I., PhD, Georas, Steve N., MD, Cheadle, Chris, PhD, Berger, Alan E., PhD, Zhang, Kunzhong, PhD, Vidyasagar, Sadasivan, MD, PhD, Yoshida, Takeshi, PhD, Boguniewicz, Mark, MD, Hata, Tissa, MD, Schneider, Lynda C., MD, Hanifin, Jon M., MD, Gallo, Richard L., MD, Novak, Natalija, MD, Weidinger, Stephan, MD, Beaty, Terri H., PhD, Leung, Donald Y.M., MD, PhD, Barnes, Kathleen C., PhD, Beck, Lisa A., MD

“…Background Atopic dermatitis (AD) is characterized by dry skin and a hyperactive immune response to allergens, 2 cardinal features that are caused in part by…”
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Telomerase mutations in smokers with severe emphysema by Stanley, Susan E, Chen, Julian J L, Podlevsky, Joshua D, Alder, Jonathan K, Hansel, Nadia N, Mathias, Rasika A, Qi, Xiaodong, Rafaels, Nicholas M, Wise, Robert A, Silverman, Edwin K, Barnes, Kathleen C, Armanios, Mary

“…Mutations in the essential telomerase genes TERT and TR cause familial pulmonary fibrosis; however, in telomerase-null mice, short telomeres predispose to…”
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Critical Role for Mast Cell Stat5 Activity in Skin Inflammation by Ando, Tomoaki, Xiao, Wenbin, Gao, Peisong, Namiranian, Siavash, Matsumoto, Kenji, Tomimori, Yoshiaki, Hong, Hong, Yamashita, Hirotaka, Kimura, Miho, Kashiwakura, Jun-ichi, Hata, Tissa R., Izuhara, Kenji, Gurish, Michael F., Roers, Axel, Rafaels, Nicholas M., Barnes, Kathleen C., Jamora, Colin, Kawakami, Yuko, Kawakami, Toshiaki

“…Atopic dermatitis (AD) is a chronic inflammatory skin disease. Here, we show that phospholipase C-β3 (PLC-β3)-deficient mice spontaneously develop AD-like skin…”
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Sensitive detection of chromosomal segments of distinct ancestry in admixed populations by Price, Alkes L, Tandon, Arti, Patterson, Nick, Barnes, Kathleen C, Rafaels, Nicholas, Ruczinski, Ingo, Beaty, Terri H, Mathias, Rasika, Reich, David, Myers, Simon

“…Identifying the ancestry of chromosomal segments of distinct ancestry has a wide range of applications from disease mapping to learning about history. Most…”
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Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum by Gao, Pei-Song, MD, PhD, Rafaels, Nicholas M., MS, Hand, Tracey, MSc, Murray, Tanda, MHS, Boguniewicz, Mark, MD, Hata, Tissa, MD, Schneider, Lynda, MD, Hanifin, Jon M., MD, Gallo, Richard L., MD, Gao, Li, MD, PhD, Beaty, Terri H., PhD, Beck, Lisa A., MD, Barnes, Kathleen C., PhD, Leung, Donald Y.M., MD

“…Background Loss-of-function null mutations R501X and 2282del4 in the skin barrier gene, filaggrin ( FLG ), represent the most replicated genetic risk factors…”
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Genetic variants in thymic stromal lymphopoietin are associated with atopic dermatitis and eczema herpeticum by Gao, Pei-Song, MD, PhD, Rafaels, Nicholas M., MS, Mu, Deguang, MD, PhD, Hand, Tracey, MS, Murray, Tanda, MHS, Boguniewicz, Mark, MD, Hata, Tissa, MD, Schneider, Lynda, MD, Hanifin, Jon M., MD, Gallo, Richard L., MD, Gao, Li, MD, PhD, Beaty, Terri H., PhD, Beck, Lisa A., MD, Leung, Donald Y.M., MD, Barnes, Kathleen C., PhD

“…Quality controls were performed as described previously.6 The Cochran-Armitage trend test was used to test for association between each SNP and disease status…”
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APOε4 is associated with enhanced in vivo innate immune responses in human subjects by Gale, Stephen C., MD, Gao, Li, MD, PhD, Mikacenic, Carmen, MD, Coyle, Susette M., RN, Rafaels, Nicholas, MS, Murray Dudenkov, Tanda, MHS, Madenspacher, Jennifer H., MS, Draper, David W., PhD, Ge, William, Aloor, Jim J., PhD, Azzam, Kathleen M., PhD, Lai, Lihua, PhD, Blackshear, Perry J., MD, DPhil, Calvano, Steven E., PhD, Barnes, Kathleen C., PhD, Lowry, Stephen F., MD, Corbett, Siobhan, MD, PhD, Wurfel, Mark M, Fessler, Michael B., MD

“…Background The genetic determinants of the human innate immune response are poorly understood. Apolipoprotein (Apo) E, a lipid-trafficking protein that affects…”
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Reductions in claudin-1 may enhance susceptibility to herpes simplex virus 1 infections in atopic dermatitis by De Benedetto, Anna, MD, Slifka, Mark K., PhD, Rafaels, Nicholas M., MS, Kuo, I-Hsin, MS, Georas, Steve N., MD, Boguniewicz, Mark, MD, Hata, Tissa, MD, Schneider, Lynda C., MD, Hanifin, Jon M., MD, Gallo, Richard L., MD, Johnson, David C., PhD, Barnes, Kathleen C., PhD, Leung, Donald Y.M., MD, PhD, Beck, Lisa A., MD

“…To the Editor: Atopic dermatitis (AD) is the most common inflammatory skin disease, affecting up to 20% of children in the United States, and is characterized…”
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Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum by Gao, Li, MD, PhD, Bin, Lianghua, PhD, Rafaels, Nicholas M., MS, Huang, Lili, MS, Potee, Joseph, MS, Ruczinski, Ingo, PhD, Beaty, Terri H., PhD, Paller, Amy S., MD, Schneider, Lynda C., MD, Gallo, Rich, MD, PhD, Hanifin, Jon M., MD, Beck, Lisa A., MD, Geha, Raif S., MD, Mathias, Rasika A., ScD, Barnes, Kathleen C., PhD, Leung, Donald Y.M., MD, PhD

“…Background A subset of atopic dermatitis is associated with increased susceptibility to eczema herpeticum (ADEH+). We previously reported that common single…”
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Human atopic dermatitis complicated by eczema herpeticum is associated with abnormalities in IFN-γ response by Leung, Donald Y.M., MD, PhD, Gao, Pei-Song, MD, PhD, Grigoryev, Dmitry N., MD, PhD, Rafaels, Nicholas M., MS, Streib, Joanne E., BA, Howell, Michael D., PhD, Taylor, Patricia A., NP, Boguniewicz, Mark, MD, Canniff, Jennifer, BS, Armstrong, Brian, MPH, Zaccaro, Daniel J., MS, Schneider, Lynda C., MD, Hata, Tissa R., MD, Hanifin, Jon M., MD, Beck, Lisa A., MD, Weinberg, Adriana, MD, PhD, Barnes, Kathleen C., PhD

“…Background The basis for increased susceptibility of patients with atopic dermatitis (AD) to develop disseminated viral skin infections such as eczema…”
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Serum endostatin is a genetically determined predictor of survival in pulmonary arterial hypertension by Damico, Rachel, Kolb, Todd M, Valera, Lidenys, Wang, Lan, Housten, Traci, Tedford, Ryan J, Kass, David A, Rafaels, Nicholas, Gao, Li, Barnes, Kathleen C, Benza, Raymond L, Rand, James L, Hamid, Rizwan, Loyd, James E, Robbins, Ivan M, Hemnes, Anna R, Chung, Wendy K, Austin, Eric D, Drummond, M Bradley, Mathai, Stephen C, Hassoun, Paul M

“…Pulmonary arterial hypertension (PAH) is a medically incurable disease resulting in death from right ventricular (RV) failure. Both pulmonary vascular and RV…”
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Surfactant protein D is a causal risk factor for COPD: results of Mendelian randomisation by Obeidat, Ma'en, Li, Xuan, Burgess, Stephen, Zhou, Guohai, Fishbane, Nick, Hansel, Nadia N, Bossé, Yohan, Joubert, Philippe, Hao, Ke, Nickle, David C, van den Berge, Maarten, Timens, Wim, Cho, Michael H, Hobbs, Brian D, de Jong, Kim, Boezen, Marike, Hung, Rayjean J, Rafaels, Nicholas, Mathias, Rasika, Ruczinski, Ingo, Beaty, Terri H, Barnes, Kathleen C, Paré, Peter D, Sin, Don D

“…Surfactant protein D (SP-D) is produced primarily in the lung and is involved in regulating pulmonary surfactants, lipid homeostasis and innate immunity…”
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The pharmacogenomics of inhaled corticosteroids and lung function decline in COPD by Obeidat, Ma'en, Faiz, Alen, Li, Xuan, van den Berge, Maarten, Hansel, Nadia N, Joubert, Philippe, Hao, Ke, Brandsma, Corry-Anke, Rafaels, Nicholas, Mathias, Rasika, Ruczinski, Ingo, Beaty, Terri H, Barnes, Kathleen C, Man, S F Paul, Paré, Peter D, Sin, Don D

“…Inhaled corticosteroids (ICS) are widely prescribed for patients with chronic obstructive pulmonary disease (COPD), yet have variable outcomes and adverse…”
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Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure by Gao, Li, Rafaels, Nicholas, Dudenkov, Tanda M, Damarla, Mahendra, Damico, Rachel, Maloney, James P, Moss, Marc, Martin, Greg S, Sevransky, Jonathan, Shanholtz, Carl, Herr, Dan L, Garcia, Joe G N, Hernandez-Beeftink, Tamara, Villar, Jesús, Flores, Carlos, Beaty, Terri H, Brower, Roy, Hassoun, Paul M, Barnes, Kathleen C

“…Sepsis and associated organ failures confer substantial morbidity and mortality. Xanthine oxidoreductase (XOR) is implicated in the development of tissue…”
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Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis by Blue, Elizabeth, Louie, Tin L, Chong, Jessica X, Hebbring, Scott J, Barnes, Kathleen C, Rafaels, Nicholas M, Knowles, Michael R, Gibson, Ronald L, Bamshad, Michael J, Emond, Mary J

“…Cystic fibrosis, like primary ciliary dyskinesia, is an autosomal recessive disorder characterized by abnormal mucociliary clearance and obstructive lung…”
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Aquaporin 5 polymorphisms and rate of lung function decline in chronic obstructive pulmonary disease by Hansel, Nadia N, Sidhaye, Venkataramana, Rafaels, Nicholas M, Gao, Li, Gao, Peisong, Williams, Renaldo, Connett, John E, Beaty, Terri H, Mathias, Rasika A, Wise, Robert A, King, Landon S, Barnes, Kathleen C

“…Aquaporin-5 (AQP5) can cause mucus overproduction and lower lung function. Genetic variants in the AQP5 gene might be associated with rate of lung function…”
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Recombination rates in admixed individuals identified by ancestry-based inference by Novembre, John, Wegmann, Daniel, Kessner, Darren E, Veeramah, Krishna R, Mathias, Rasika A, Nicolae, Dan L, Yanek, Lisa R, Sun, Yan V, Torgerson, Dara G, Rafaels, Nicholas, Mosley, Thomas, Becker, Lewis C, Ruczinski, Ingo, Beaty, Terri H, Kardia, Sharon L R, Meyers, Deborah A, Barnes, Kathleen C, Becker, Diane M, Freimer, Nelson B

“…John Novembre and colleagues present a new approach for constructing recombination maps based on ancestry switch points among individuals. They construct a…”
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The association of Native American and European ancestry with Atopy, Asthma and Lung function in Asthma Cases and Controls from Peru by Akenroye, Ayobami T., Daya, Michelle, Romero, Karina, Brunetti, Tonya M., Boorgula, Meher Preethi, Rafaels, Nicholas M., Barnes, Kathleen C., Checkley, William, Hansel, Nadia, Mathias, Rasika A.

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FADS genetic variants and ω-6 polyunsaturated fatty acid metabolism in a homogeneous island population[S] by Mathias, Rasika A., Vergara, Candelaria, Gao, Li, Rafaels, Nicholas, Hand, Tracey, Campbell, Monica, Bickel, Carol, Ivester, Priscilla, Sergeant, Susan, Barnes, Kathleen C., Chilton, Floyd H.

“…Long-chain polyunsaturated fatty acids (PUFA) orchestrate immunity and inflammation through their capacity to be converted to potent inflammatory mediators. We…”
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An IL-13 promoter polymorphism associated with liver fibrosis in patients with Schistosoma japonicum by Long, Xin, Chen, Qian, Zhao, Jianping, Rafaels, Nicholas, Mathias, Priyanka, Liang, Huifang, Potee, Joseph, Campbell, Monica, Zhang, Bixiang, Gao, Li, Georas, Steve N, Vercelli, Donata, Beaty, Terri H, Ruczinski, Ingo, Mathias, Rasika, Barnes, Kathleen C, Chen, Xiaoping

“…The aim of this study was to determine whether two polymorphisms in the gene encoding IL13 previously associated with Schistosoma hematobium (S. hematobium)…”
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